CYP51A1 — 116 ClinVar variants
All ClinVar germline CYP51A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Likely pathogenic · 22 Benign · 1 Benign/Likely benign · 18 Likely benign · 74 Uncertain significance
Full CYP51A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CYP51A1 variants
Likely pathogenic 1
- p.Leu232Pro Single submitter
Benign 22
- c.1183-201A>G Multiple submitters
- c.193-47T>C Multiple submitters
- c.292-15C>T Multiple submitters
- c.292-52G>T Multiple submitters
- c.468+83T>C Multiple submitters
- c.891-61G>T Multiple submitters
- c.*251G>C Multiple submitters
- p.His453= Multiple submitters
- c.1087-14C>A Single submitter
- c.1182+175A>G Single submitter
- c.1352-12del Single submitter
- c.193-120del Single submitter
- c.291+124G>A Single submitter
- c.291+206C>T Single submitter
- c.291+25_291+26dup Single submitter
- c.291+25dup Single submitter
- c.595+66A>G Single submitter
- c.596-17C>G Single submitter
- c.-246G>A Single submitter
- p.Ile383Val Single submitter
- p.Pro497= Single submitter
- p.Tyr296= Single submitter
Benign/Likely benign 1
- p.Pro437Ser Multiple submitters
Likely benign 18
- c.291+35A>C Multiple submitters
- c.-198G>A Multiple submitters
- p.Ile88Val Multiple submitters
- c.1352-246A>G Single submitter
- c.291+25_291+27dup Single submitter
- c.469-297T>A Single submitter
- c.770+114G>A Single submitter
- c.771-189A>G Single submitter
- c.-49T>C Single submitter
- c.*280T>C Single submitter
- p.Ala438= Single submitter
- p.Asn31= Single submitter
- p.Asp479= Single submitter
- p.Gln279= Single submitter
- p.Lys348= Single submitter
- c.292-6T>C No assertion criteria CYP51A1-related disorder
- p.Ala15Val No assertion criteria CYP51A1-related disorder
- p.Lys228Gln No assertion criteria CYP51A1-related disorder
Uncertain significance 74
- p.Arg277Cys Multiple submitters
- p.Arg431Cys Multiple submitters
- p.Asp430His Multiple submitters
- p.Gln22Lys Multiple submitters
- p.Gly17Ala Multiple submitters
- p.Gly238Glu Multiple submitters
- p.Ser66Gly Multiple submitters
- p.Thr112Ser Multiple submitters
- c.468+1G>A Single submitter
- c.890+5G>T Single submitter
- p.Ala3Val Single submitter
- p.Arg139Cys Single submitter
- p.Arg258Leu Single submitter
- p.Arg261Lys Single submitter
- p.Arg264Gln Single submitter
- p.Arg424Cys Single submitter
- p.Arg431Leu Single submitter
- p.Arg452His Single submitter
- p.Arg474Cys Single submitter
- p.Arg503His Single submitter
- p.Asn428Ser Single submitter
- p.Asp152Asn Single submitter
- p.Asp479His Single submitter
- p.Cys343fs Single submitter
- p.Cys372Tyr Single submitter
- p.Gln161His Single submitter
- p.Gln434Glu Single submitter
- p.Gln434His Single submitter
- p.Glu346Asp Single submitter
- p.Glu353Asp Single submitter
- p.Glu458Asp Single submitter
- p.Glu92fs Single submitter
- p.Glu96Gly Single submitter
- p.Gly116Val Single submitter
- p.Gly16Val Single submitter
- p.Gly17Glu Single submitter
- p.Gly238Arg Single submitter
- p.Gly30Cys Single submitter
- p.His56Gln Single submitter
- p.His56Tyr Single submitter
- p.Ile171Thr Single submitter
- p.Ile171Val Single submitter
- p.Ile180Val Single submitter
- p.Ile385_Met386insTer Single submitter
- p.Leu115Arg Single submitter
- p.Leu225Phe Single submitter
- p.Leu369His Single submitter
- p.Leu480Val Single submitter
- p.Lys228Glu Single submitter
- p.Lys26Arg Single submitter
- p.Met106Val Single submitter
- p.Met164Leu Single submitter
- p.Met24Leu Single submitter
- p.Phe270Leu Single submitter
- p.Phe485Leu Single submitter
- p.Phe90_Leu91insTer Single submitter
- p.Pro301Leu Single submitter
- p.Pro497Ser Single submitter
- p.Pro500Ser Single submitter
- p.Ser117Arg Single submitter
- p.Ser167Gly Single submitter
- p.Ser410Phe Single submitter
- p.Ter510Leu Single submitter
- p.Thr211Ile Single submitter
- p.Thr321Ile Single submitter
- p.Trp328Ser Single submitter
- p.Tyr344His Single submitter
- p.Tyr399Cys Single submitter
- p.Tyr445Cys Single submitter
- p.Tyr484Cys Single submitter
- p.Val107Ile Single submitter
- p.Val27Glu Single submitter
- p.Val409Ile Single submitter
- p.Ala94Thr No assertion criteria Developmental cataract